A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674066



Internal ID9940171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16131694..16133800hg38UCSC Ensembl
Outerchr2:16131223..16134170hg38UCSC Ensembl
Innerchr2:16271816..16273922hg19UCSC Ensembl
Outerchr2:16271345..16274292hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv682e199
Supporting Variantsessv6510690, essv6039429, essv6292024, essv5590604, essv5430915, essv5410558, essv5670990, essv5959546, essv5463956, essv5835360, essv5923990, essv6393630, essv5784832, essv5411113, essv6443807, essv6433126, essv6130170, essv5582428, essv6399372, essv5476671, essv6433117, essv5598409, essv5876804, essv6393380, essv6423868, essv6246282, essv6040389, essv5687648, essv6233057, essv6532995, essv6403093, essv5784664, essv6568468, essv6121177, essv6410313, essv6206191, essv6505968, essv6395213, essv5875859, essv6149639, essv5929515, essv6355691, essv5747454, essv6201734, essv5536846, essv5494952, essv6038167, essv5456411, essv6017739, essv5455489, essv5745073, essv5525943, essv5476018, essv5685979, essv6215117, essv6072863, essv5590816, essv6167323, essv6228103, essv5883125, essv5919149, essv5524316, essv5764905, essv6207204, essv5538781, essv5792369, essv6256163, essv6009646, essv6240101, essv5435040, essv5576251, essv5999094, essv6159250, essv6414397, essv6328284, essv6561300, essv5744075, essv6084381, essv6570603, essv6334068, essv5939107, essv5443586, essv5930576, essv6579326, essv5460138, essv5468446, essv5753064, essv6078728, essv6463696, essv6423463, essv5987199, essv6493417, essv5908623, essv5955545, essv6473848, essv6117722, essv5458734, essv6058471, essv5564532, essv6148457, essv5793539, essv5465979, essv6590712, essv6353466, essv6035809, essv6128803, essv6292972, essv6167838, essv5577724, essv5548573, essv6577303, essv6490965, essv5807031, essv5639837, essv6048876, essv6376251, essv5804918, essv5454159, essv6472341, essv6423136, essv6201078, essv5677008, essv6515420, essv6180755, essv5840656, essv6231384, essv6212088, essv5964821, essv6429254, essv5740617, essv6555266, essv6037919, essv6425019, essv6509470, essv5983755, essv6019603, essv6042725, essv5882196, essv6442958, essv6455160, essv6395223, essv6405395, essv5885882, essv5777030, essv6493091, essv6526209, essv6081007, essv6526385, essv6027496, essv6393252, essv6563520, essv5575109, essv5457347, essv5459391, essv6093975, essv6508667, essv6482232, essv6113032, essv5886777, essv6178606, essv6254542, essv6125544, essv6365870, essv5526366, essv5596868, essv5465754, essv6400909, essv5679753, essv5582615, essv6487063, essv6452327, essv6079642, essv6297495, essv5999384, essv5511256, essv6255238, essv6438641, essv6471897, essv6032119, essv5692677, essv5438698, essv6400104, essv6523256, essv6475092, essv6505236, essv6162867, essv6497490, essv6275313, essv5969093, essv5692717, essv5619200, essv5942020, essv6523725, essv6357112, essv6186233, essv6454285, essv5729829, essv6008734, essv6019757, essv6192370, essv6083285, essv6372131, essv6345562, essv5867357, essv5863828, essv5975437, essv6000237, essv5816779, essv5769050, essv5929756, essv5787168, essv6143387, essv6481116, essv6214156, essv6528572, essv6418534, essv5577507, essv6248815, essv6192916, essv6355111, essv6136912, essv6526458, essv6422271, essv5546039, essv6369486, essv6367445, essv5968998, essv5490863, essv6492916, essv5673017, essv6091273, essv5454959, essv6497216, essv5947337, essv5695027, essv5822874, essv6222924, essv6195711, essv5871298, essv6261985, essv6409845, essv5821930, essv6008698, essv6312270, essv5733688, essv5845001, essv5830747, essv6129245, essv6190803, essv6429123, essv5758489, essv6129967, essv6144968, essv6315116, essv5727432, essv5503997, essv6110289, essv5649308, essv5935539, essv5496920, essv6359141, essv6234474, essv6495248, essv6285660, essv6455802, essv6177572, essv6386316, essv6544676, essv5831907, essv5898750, essv5937454, essv5915046, essv6403957, essv6302755, essv6046953, essv5532834, essv5460353, essv6151588, essv6103696, essv6299632, essv5746461, essv5487938, essv6256052, essv5624507, essv6181664, essv5592428, essv5747793, essv5434497, essv6210012, essv5912327, essv6549828, essv6504130, essv5592758, essv6099170, essv5397579, essv6208799, essv6358853, essv6016566, essv6422993, essv6475074, essv6464301, essv6012158, essv5890717, essv6155734, essv6573460, essv5992331, essv6057594, essv6201124, essv5713095, essv6251770, essv5955484, essv5936434, essv5934791, essv5507813, essv5763879, essv5931721, essv6317080, essv5648207, essv5750776, essv6332907, essv5676959, essv6457742, essv5686737, essv5498478, essv6376587, essv5559075, essv5805439, essv5888196, essv5427719, essv6360322, essv6311805, essv5417315, essv6505293, essv5713314, essv5916684, essv5846724, essv5548366, essv5561318, essv6154419, essv6024411, essv6468994, essv6302698, essv5575129, essv6524074, essv6162550, essv6115215, essv5641350, essv5507892, essv6424457, essv6007768, essv5668211, essv6571003, essv5782254, essv5758396, essv6368816, essv6047160, essv6478549, essv6135631, essv6588422, essv5993635, essv5923589, essv6033842, essv6589587, essv6061640, essv6462850, essv5609523, essv5742521, essv6061754, essv6338346, essv6488923, essv6185373, essv6515392, essv5420089, essv5404767, essv5907755, essv5826440, essv5954703, essv6517398, essv6008923, essv6422577, essv5968203, essv5412539, essv5496140, essv6393088, essv6200203, essv5755791, essv5488399, essv5559526, essv6020560, essv5841864, essv5973494, essv5534232, essv6330175, essv5540586, essv6105095, essv5803362, essv5737504, essv5989693, essv5653725, essv5503321, essv6527039, essv6464064, essv6200803, essv5728759, essv5779181, essv5779088, essv5784611, essv6287705, essv6220120, essv5719604, essv5772118, essv6302047, essv5588274, essv6460361, essv5771432, essv6465661, essv6399893, essv5750063, essv6566070, essv5958186, essv6403936, essv6093494, essv6208059, essv5935391, essv6096494, essv5672323, essv6589661, essv5968475, essv6249903, essv6091913, essv6069384, essv6307906, essv5573646, essv6255333, essv5962959, essv5432800, essv5751371, essv5780552, essv5945386, essv6384081, essv6185013, essv6478875, essv6416683, essv6547233, essv6388399, essv6058587, essv6055613, essv5720978, essv5506091, essv5462120, essv5514901, essv5654320, essv5618545, essv5488629, essv5669129, essv6467668, essv6098544, essv5707147, essv5707268, essv5769225, essv6486557, essv5431362, essv6230910, essv5930588, essv5498268, essv5576483, essv5612516, essv6106183, essv6105586, essv5424339, essv6339284, essv6130270, essv6178320, essv5489279, essv5960570, essv5856982, essv6375406, essv6020215, essv5843642, essv6027184, essv6088410, essv5416370, essv5563074, essv6237283, essv6379271, essv6092172, essv6156980, essv5462620, essv6247977, essv5784103, essv5881590, essv5670764, essv5994697, essv6280721, essv5902410, essv5782948, essv6066730, essv6373130, essv6161415, essv5630919, essv6009623, essv6237266, essv5443206, essv5803701, essv5421017, essv6460632, essv5665909, essv5907332, essv5834839, essv6408530, essv6575157, essv5606576, essv5776933, essv5809705, essv5632877, essv6159412, essv5519658, essv6528355, essv6300058, essv6296484, essv5765737, essv5872076, essv5579704, essv5974785, essv6188389, essv6002009, essv5461825, essv6519935, essv5741233, essv5522987, essv6555690, essv5834354
SamplesNA18502, HG00189, NA19058, NA18621, HG00142, NA18947, NA19664, NA19399, HG00257, HG00151, NA18999, HG00233, NA18504, NA19684, NA19377, HG01461, NA19067, HG00337, NA19446, HG00138, NA19171, HG01350, NA19379, HG00122, HG01167, HG01492, NA18618, NA18916, HG01083, HG01365, NA19384, HG00243, NA20291, HG00158, HG00281, HG00139, NA19720, HG00335, HG01519, NA18868, NA19172, HG00326, HG00323, NA19985, NA18867, NA19789, NA19921, HG00137, HG00731, NA18538, HG00266, HG01095, NA19717, HG00344, NA19081, HG01498, NA18572, NA18948, NA18548, NA18907, NA18537, HG01047, HG01102, NA19084, HG00331, NA19453, NA18532, NA19059, HG01334, NA19452, NA19682, NA18523, NA19318, NA19395, HG00126, NA19625, HG01107, NA19729, NA19440, HG00336, NA19256, NA19712, NA19434, NA19444, NA19331, NA19010, HG01174, NA19470, NA19428, HG00116, NA20281, NA19360, HG01342, NA19328, NA19779, HG00267, NA18609, NA19102, NA18873, HG00112, NA19770, HG00377, HG00274, NA18989, NA19129, NA18624, NA18612, NA19429, NA18487, HG01437, NA19431, NA18577, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, NA18924, NA19466, NA18592, HG01359, HG01052, HG01079, HG00100, NA18507, HG01188, NA18599, HG01374, NA18603, NA19819, NA20346, HG00150, NA19190, NA19098, NA19746, NA19660, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00173, NA19723, NA18635, NA19916, HG00330, NA19131, NA18942, HG00736, NA19197, HG01354, NA19313, HG00247, NA19054, NA19681, NA20336, HG01134, HG00277, NA19651, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, NA20340, NA19371, NA19075, NA19471, HG00182, NA19002, NA19725, NA19189, NA18520, HG00338, NA19209, HG00178, NA18908, NA18973, NA19451, HG00108, HG01136, HG00149, NA19247, NA19657, HG01360, HG00183, HG00176, NA19707, HG01384, NA19462, NA19347, NA19391, NA19327, NA19982, NA18910, NA20344, NA19776, NA19000, NA19655, HG01197, NA18499, HG01383, HG01182, NA20282, NA19225, HG00141, NA19160, NA18536, NA18576, NA20296, NA19685, NA19401, HG00119, NA18535, NA19834, NA19108, NA18952, HG00375, HG01253, HG00136, HG00638, HG00319, HG01108, HG00256, HG00125, NA20341, NA19759, NA19376, NA19248, HG00312, NA19472, HG00329, NA18987, NA19713, HG00174, NA19726, HG00343, HG00372, HG00252, HG01377, NA18505, NA19004, NA20322, HG00345, HG01097, NA18549, HG01191, NA19394, NA19701, HG01173, NA19909, HG00242, NA19204, NA18861, NA18508, HG01066, HG00244, NA19350, HG00181, NA19359, NA20294, NA19355, NA20332, NA18959, HG00737, HG00115, NA18616, NA19443, HG01051, NA20356, HG00261, NA18510, NA18602, HG01522, NA18627, HG00271, NA19107, NA18563, HG00641, NA18519, HG00272, NA19319, HG01351, HG01168, NA18567, NA19457, HG00334, NA20287, HG00185, NA19904, NA19130, HG01069, HG01080, NA20278, HG00148, HG00156, HG00325, HG00232, NA19372, NA19207, NA19722, HG00160, HG00118, HG01198, NA20127, HG00253, NA18539, HG00154, NA19908, HG00268, HG01171, HG00282, NA19403, HG00245, NA18933, HG00732, NA19455, NA20314, HG00275, NA18579, NA18871, HG01149, HG00239, HG00740, HG00324, NA19461, HG00250, NA18912, HG01101, HG00140, NA18553, HG01497, NA19099, NA19761, NA18555, HG00152, HG00146, NA19469, HG00246, NA18858, NA18541, HG01075, NA18974, HG01148, HG00258, HG00155, HG00254, NA19390, HG00265, NA19147, NA20276, NA19747, HG00353, NA19072, HG01551, HG00734, HG01357, HG01375, HG00237, NA19679, NA19324, NA19311, HG01113, HG01137, HG01489, HG00339, NA18501, HG00259, HG00342, NA19468, NA19474, NA19093, HG00310, HG00280, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA19316, NA19312, HG01125, HG00171, NA18968, NA19463, NA18623, NA19063, NA19346, HG00553, NA19676, NA18620, HG01516, HG01521, HG01098, HG01356, HG00231, HG00249, HG00361, NA19914, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA19777, NA18596, HG01456, NA18606, HG00179, HG00177, NA18870, HG01140, HG00327, NA19374, HG00127, NA19381, HG01366, HG01070, NA19382, NA19762, NA19448, HG01488, NA18982, NA19198, NA20317, HG00346, NA19771, NA19138, HG00270, NA19782, NA19404, HG01455, HG01067, NA19383, NA18874, HG01495, NA19917, NA19137, HG01072, NA19731, NA19385, NA19317, NA18986, HG01440, HG00309, NA19901, HG00159, NA19456, NA19445, HG00264, NA18614, HG01353, HG00313, HG00133, HG01183, NA19437, HG01187, NA18934, HG00328, NA19152, HG00190, HG01515, NA19236, NA18516, HG00320, NA20126, HG01390, NA18566, HG01073, HG00273, NA20299, NA19449, NA18856, HG00117, HG00321, NA19338, NA19257, HG00276, NA19675, NA18945, HG01204, NA19436, NA18546, NA18608, HG00124, NA18909, HG00285, NA19321, NA18961, HG00366, NA19473, HG00357, NA19435, HG00278, NA19773, NA19144, NA19334, HG01494, NA19439, HG00269, NA19398, HG00111, NA20348, HG01491, NA20334, HG01254, HG01055, HG00123, HG00186, HG00131, HG01251, NA19661, HG01378, NA19755, HG01082, NA19758, NA18511, NA18522, HG01112, HG00554, HG00180, HG01061, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674066
Frequency
Sample Size1151
Observed Gain0
Observed Loss532
Observed Complex0
Frequencyn/a


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